All individuals with variants in gene NBAS

28 entries on 1 page. Showing entries 1 - 28.
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00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 7 1 Yu Sun
00074518 Fam1PatII1;R70186 PubMed: Haack 2015, Journal: Haack 2015, PubMed: Yepez 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - >18y - - - LFIT acute liver failure (HP:0006554) 2 1 Jamie Zeegers
00074521 - PubMed: Haack 2015, Journal: Haack 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Germany - >22y - - - LFIT acute liver failure (HP:0006554), acute renal failure (HP:0001919), epilepsy (HP:0001250) 1 1 Jamie Zeegers
00074522 - PubMed: Haack 2015, Journal: Haack 2015 2-generation family, 1 affecteds, unaffected heterozygous carrier parents F - Germany - >18y - - - LFIT acute liver failure (HP:0006554), celiac disease (HP:0002608) 2 1 Jamie Zeegers
00074523 - PubMed: Haack 2015, Journal: Haack 2015 2-generation family, 1 affecteds, unaffected heterozygous carrier parents F - Germany - >37y - - - LFIT acute liver failure (HP:0006554) 2 1 Jamie Zeegers
00074524 Fam5PatII2;R29620 PubMed: Haack 2015, Journal: Haack 2015, PubMed: Yepez 2022 2-generation family, 1 affecteds, unaffected heterozygous carrier parents M - Germany - >14y - - - LFIT acute liver failure (HP:0006554), cardiomyopathy (HP:0001638) 2 1 Jamie Zeegers
00074525 - PubMed: Haack 2015, Journal: Haack 2015 2-generation family, 5 affecteds, unaffected heterozygous carrier parents M - - - >03y - - - LFIT acute liver failure (HP:0006554) 2 1 Jamie Zeegers
00074526 - PubMed: Haack 2015, Journal: Haack 2015 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents, PatII1 F - - - >09y - - - LFIT acute liver failure (HP:0006554) 2 2 Jamie Zeegers
00074527 - PubMed: Haack 2015, Journal: Haack 2015 sister II2 F - - - >11y - - - LFIT acute liver failure (HP:0006554), erythema nodosum (HP:0012219), Crohn’s disease (HP:0100280) 2 1 Jamie Zeegers
00074528 - PubMed: Haack 2015, Journal: Haack 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes - - >08y - - - LFIT acute liver failure (HP:0006554) 2 1 Jamie Zeegers
00074529 - PubMed: Haack 2015, Journal: Haack 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents, older siblings died in early infancy due to acute liver failure. F - - - >04y - - - LFIT acute liver failure (HP:0006554) 2 1 Jamie Zeegers
00074530 - PubMed: Haack 2015, Journal: Haack 2015 2-generation family, 1 affecteds, unaffected heterozygous carrier parents F - - - >18y - - - LFIT acute liver failure (HP:0006554) 2 1 Jamie Zeegers
00144431 - - - M - (Germany) - - - - - ? Decreased liver function (HP:0001410); Growth delay (HP:0001510); Large fontanelles (HP:0000239) 2 1 IMGAG
00271297 ED2150 Ritelli et al., 2020 submitted - M no Italy - - - - - LFIT2, MRXSC, SOPH - 2 1 Marco Ritelli
00273167 - - - F - Saudi Arabia Arab - - - - ADHD - 1 1 Nada Al Tassan
00301665 - - - F - (Germany) - - - - - ? Cone/cone-rod dystrophy (HP:0000548); Cone dystrophy (HP:0008020) 1 1 IMGAG
00328847 JU#1303 PubMed: Katagiri 2017 - F - Japan - - - - - retinal disease see paper; ... 2 1 LOVD
00358953 Case70052 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00358965 Case13730 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00358966 Case30421 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - retinal disease see paper; ... 1 1 LOVD
00362239 ? Fadaie 2021, submitted - - no Netherlands - - - - - retinal disease - 1 1 Zeinab Fadaie
00379536 IR_SH_0059 - - M - - - - - - - RD HP:0000662, HP:0000613, HP:0001129, HP:0003745, HP:0000648, HP:0004322, HP:0000548, HP:0005328 2 1 Jinu Han
00414792 patient PubMed: Priglinger 2022, Journal: Priglinger 2022 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no Greece - - - - - retinal degeneration see paper; ..., isolated cone dysfunction, bilateral optic atrophy, Pelger-Huët anomaly, no short stature, no recurrent acute liver failure, no susceptibility to infections 2 2 Nicole Weisschuh
00427977 A026 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - ? - 3 1 Johan den Dunnen
00447523 CD-615-1 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - ? - 2 2 Johan den Dunnen
00447524 CD-615-2 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - ? - 2 1 Johan den Dunnen
00461176 F035P036II-2 PubMed: Zheng 2024 family, 2 affected M - China - - - - - OPA see paper; ..., congenital onset; best corrected visual acuity (first visit) OD finger count/OS 0.05; fundus oculi (first visit) OD diffuse pale optic disc, ARV/OS diffuse pale optic disc, ARV; 2 2 Johan den Dunnen
00461177 F035P037II-1 PubMed: Zheng 2024 relative F - China - - - - - OPA see paper; ..., congenital onset; best corrected visual acuity (first visit) OD 0.01/OS 0.1; fundus oculi (first visit) OD diffuse pale optic disc, TD/OS diffuse pale optic disc,tapetoretinal degeneration; 2 1 Johan den Dunnen
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